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Paediatric Pulmonology and Allergology
2004 April, Vol. VII, No. 1 (pp.2397-2410)
Primary Ciliary Dyskinesia: Diagnosis, Management, and Organisation of Clinics
Andrew Bush
Primary ciliary dyskinesia (PCD) is a relatively rare condition mainly inherited as an autosomal recessive. It must be distinguished from secondary causes of ciliary dysfunction, notably after viral infection. Late diagnosis is common, as are mild cases picked up by screening siblings of an index case. Even given a prevalence of 1 in 15,000, there will be around 70 new cases born per year, and 3000 cases in the United Kingdom in total. Only about 90 cases are known to the UK PCD Support group. Even if this group is aware of only 10 perc. of known cases, there must be large numbers of undiagnosed patients. This is important, since the diagnosis has implications for many aspects of upper and lower respiratory tract disease. The purpose of this paper is to increase diagnostic awareness of PCD, discuss management, and describe the optimal organisation of services for these patients.